Total 22 pathogenic variants reported for Duane retraction syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) SNV
Germline		 Chr3:48575428 Conflicting classifications of pathogenicity Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions
Epidermolysis bullosa dystrophica
Duane retraction syndrome		 Criteria Provided
Conflicting Classifications
 CA257946 rs_121912838

7 SubmittersRCV000335209RCV000018997RCV000850543RCV001831585RCV003883119
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) SNV
Germline		 Chr2:174944942 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258034 rs_121912792

1 SubmittersRCV000019105
NM_001822.7(CHN1):c.378T>G (p.Ile126Met) SNV
Germline		 Chr2:174878011 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258035 rs_121912793

1 SubmittersRCV000019106
NM_001822.7(CHN1):c.427T>C (p.Tyr143His) SNV
Germline		 Chr2:174877962 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258036 rs_121912794

1 SubmittersRCV000019107
NM_001822.7(CHN1):c.668C>T (p.Ala223Val) SNV
Germline		 Chr2:174824478 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258037 rs_121912795

1 SubmittersRCV000019108
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) SNV
Germline		 Chr2:174824464 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258038 rs_121912796

1 SubmittersRCV000019109
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) SNV
Germline		 Chr2:174812440 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258039 rs_121912797

1 SubmittersRCV000019110
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) SNV
Germline		 Chr2:174811538 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA258040 rs_121912798

1 SubmittersRCV000019111
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) SNV
Germline		 Chr2:174877967 Pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided
 CA259606 rs_387906599

1 SubmittersRCV000022463
NM_001822.7(CHN1):c.661T>C (p.Tyr221His) SNV
Germline		 Chr2:174824485 Pathogenic Duane retraction syndrome 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA349347847 rs_1553475005

1 SubmittersRCV000677620RCV001281600
NM_001822.7(CHN1):c.588C>T (p.Asn196=) SNV
Germline		 Chr2:174846919 Conflicting classifications of pathogenicity Duane retraction syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1974969 rs_146313212

2 SubmittersRCV001136369RCV000880423
NM_001822.7(CHN1):c.435C>T (p.His145=) SNV
Germline		 Chr2:174877954 Conflicting classifications of pathogenicity Condition: not provided
Duane retraction syndrome 2		 Criteria Provided
Conflicting Classifications
 CA1975030 rs_527929031

2 SubmittersRCV000895698RCV001136371
NM_001822.7(CHN1):c.237A>G (p.Pro79=) SNV
Germline		 Chr2:174915081 Conflicting classifications of pathogenicity Condition: not provided
Duane retraction syndrome 2		 Criteria Provided
Conflicting Classifications
 CA1975073 rs_377261893

2 SubmittersRCV000899257RCV001136373
NM_005461.5(MAFB):c.393C>A (p.His131Gln) SNV
Germline		 Chr20:40688458 Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
MAFB-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9857801 rs_121912307

5 SubmittersRCV001136925RCV001856748RCV002491409RCV003433021RCV005589966
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) SNV
Germline		 Chr20:40688557 Conflicting classifications of pathogenicity Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
Inborn genetic diseases
MAFB-related disorder		 Criteria Provided
Conflicting Classifications
 CA9857816 rs_374174345

4 SubmittersRCV002103788RCV002499959RCV003015298RCV003951051
NM_005461.5(MAFB):c.340T>C (p.Ser114Pro) SNV
Germline		 Chr20:40688511 Conflicting classifications of pathogenicity Condition: not provided
Duane retraction syndrome 3 with or without deafness
Multicentric carpo-tarsal osteolysis with or without nephropathy		 Criteria Provided
Conflicting Classifications
 CA9857814 rs_150718854

2 SubmittersRCV003732420RCV005037016
NM_005461.5(MAFB):c.176C>T (p.Pro59Leu) SNV
Germline		 Chr20:40688675 Pathogenic/Likely pathogenic Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004794882RCV005038839
NM_001822.7(CHN1):c.428A>G (p.Tyr143Cys) SNV
Germline		 Chr2:174877961 Likely pathogenic Duane retraction syndrome 2 No Assertion Criteria Provided

1 SubmittersRCV005622913